PDF

NM_001034853:p.Gly1073Gly

RPGR
NM_001034853:c.3219C>T

Information

Variant Locale EXON15
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chrX:38145033:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

144/6728
European American Alternate Allele Count

448/3833
African American Alternate Allele Count
1000 Genomes
European

2/132
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

2/136
British from England and Scotland

14/162
Finnish from Finland

6/116
Iberian populations in Spain
 
East Asian

9/146
Han Chinese in Beijing, China

13/148
Japanese in Toyko, Japan

10/180
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

6/116
Iberian populations in Spain

15/148
Kinh in Ho Chi Minh City, Vietnam
West African

18/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

16/98
African Ancestry in Southwest US

16/110
African Caribbean in Barbados

34/116
Mexican Ancestry in Los Angeles, CA

11/140
Puerto Rican in Puerto Rico

11/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

23/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/2088
© 2011–2017 The Institute for Vision Research at The University of Iowa